ClinVar

NM_006164.5(NFE2L2):c.987C>T (p.Asn329=)

Gene:

NFE2L2:NFE2 like bZIP transcription factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 177231616 (on Assembly GRCh38)
• Chr2: 178096344 (on Assembly GRCh37)

Preferred name:

NM_006164.5(NFE2L2):c.987C>T (p.Asn329=)

HGVS:

• NC_000002.12:g.177231616G>A
• NM_001145412.3:c.939C>T
• NM_001145413.3:c.918C>T
• NM_001313900.1:c.939C>T
• NM_001313901.1:c.939C>T
• NM_001313902.2:c.897C>T
• NM_001313903.2:c.768C>T
• NM_001313904.1:c.687C>T
• NM_006164.5:c.987C>TMANE SELECT
• NP_001138884.1:p.Asn313=
• NP_001138885.1:p.Asn306=
• NP_001300829.1:p.Asn313=
• NP_001300830.1:p.Asn313=
• NP_001300831.1:p.Asn299=
• NP_001300832.1:p.Asn256=
• NP_001300833.1:p.Asn229=
• NP_006155.2:p.Asn329=
• NC_000002.11:g.178096344G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001145412.3:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145413.3:c.918C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001313900.1:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001313901.1:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001313902.2:c.897C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001313903.2:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001313904.1:c.687C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006164.5:c.987C>T - synonymous variant - [Sequence Ontology: SO:0001819]